Event Details

When the Lifeguard for the Gene Pool Goes on Strike: DNA Repair Disorders Xeroderma Pigmentosum and Trichothiodystrophy

Description:

DNA repair plays a major role in protecting the genome by removing DNA damage caused by sun exposure. Xeroderma pigmentosum (XP) patients with defective DNA nucleotide excision repair (NER) have a 10,000 fold increase in sunlight induced cancers of the skin (basal cell carcinoma, squamous cell carcinoma, and melanoma) and eyes. Some XP patients also have progressive neurological degeneration. Trichothiodystrophy (TTD) patients have defects in some of the same NER genes as XP patients, but their phenotype is remarkably different. Children with TTD have developmental abnormalities including congenital cataracts, absent myelin in the brain, short stature, developmental delay, multiple infections, and bone abnormalities without increased cancer. This puzzling multisystem disorder can be diagnosed by examination of their short brittle hair with a polarizing microscope revealing “tiger tail” banding of the hair shafts.

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EVENT SPEAKER(S)

Name:

Kenneth H. Kraemer, M.D.

Title:

Chief, DNA Repair Section, Dermatology Branch

Organization:

National Cancer Institute, NIH

City/Province:

Bethesda

State:

Maryland

Country:

US

EVENT SPONSOR(S)

Organization(s):

[NIH] National Human Genome Research Institute (NHGRI)

EVENT LOCATION

Location:

Off Campus

Building:

Suburban Hospital

Room:

Lower Level Auditorium

Street Address:

8600 Old Georgetown Road

City:

Bethesda

State:

Maryland

Other Information:

Convened by NHGRI, Suburban Hospital and Johns Hopkins School of Medicine. All are welcome to the hour-long lectures, which begin at 8 a.m. on the first Friday of the month, from May 2013 and January 2014. The exception is the June 28 lecture, which will be at noon. No lecture will be conducted in July or August 2013. The lectures will be recorded and posted later on GenomeTV, NHGRI’s YouTube channel, at www.youtube.com/user/GenomeTV.